Chromosomal integrity of human preimplantation embryos at different days post fertilization
Chromosomal integrity of human preimplantation embryos at different days post fertilization
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DOI：
10.1007/s10815-013-9988-y
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发表时间：
2013-06-01
影响因子：
3.1
通讯作者：
Rienstein, Shlomit
中科院分区：
文献类型：
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作者：
Dekel-Naftali, Michal;Aviram-Goldring, Ayala;Rienstein, Shlomit
为了研究在体外不同发育阶段发生的基因组改变的动态，我们在单细胞水平上通过分子细胞遗传学技术检测了人类植入前胚胎的染色体含量，直至受精后13天。每个胚胎首先在受精后“第3天”通过FISH分析，然后在其体外生长期间进行分析，第三次分析在发育停滞时进行，然后通过比较基因组杂交分析整个囊胚我们发现，虽然在“第3天”仅31%的胚胎被检测为正常，但在“第5- 6天”，44%的胚胎被分类为正常，并且在“第7天”，57%是正常的。在“第8- 13天”，52%的胚胎被归类为染色体正常。三分之一的胚胎在受精后第3天染色体异常，在发育停滞点时发现是正常的。这些发生在早期发育阶段的动态变化表明，在受精后第3天检测单个卵裂球进行PGD可能不准确地反映胚胎的倍性，并增加假非整倍体诊断的风险。或者，囊胚期诊断可能更合适。
In order to investigate the dynamics of genomic alterations that occur at different developmental stages in vitro, we examined the chromosome content of human preimplantation embryos by molecular-cytogenetic techniques at the single-cell level, up to 13 days post fertilization.The embryos were genetically analyzed several times during their development in culture; each embryo was first analyzed by FISH at 'Day 3' post fertilization, than during its growth in vitro and the third analysis was performed at development arrest, then the entire blastocyst was analyzed by comparative genomic hybridization (CGH/aCGH).We found that while on 'Day 3' only 31 % of the embryos were detected as normal, on 'Day 5-6', 44 % of the embryos were classified as normal and on 'Day 7', 57 % were normal. On 'Days 8-13', 52 % of the embryos were classified as chromosomally normal. One third of the embryos that were chromosomally abnormal on 'Day 3', were found to be normal at development arrest point.These dynamic changes that occur at early developmental stages suggest that testing a single blastomere at 'Day 3' post fertilization for PGD might inaccurately reflect the embryo ploidy and increase the risk of false aneuploidy diagnosis. Alternatively, blastocyst stage diagnosis may be more appropriate.